Sterol-C5-desaturase-like

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  (Redirected from Lathosterol oxidase)
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SC5D
Identifiers
AliasesSC5D, ERG3, S5DES, SC5DL, Sterol-C5-desaturase-like, sterol-C5-desaturase
External IDsOMIM: 602286 MGI: 1353611 HomoloGene: 5044 GeneCards: SC5D
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006918
NM_001024956

NM_172769

RefSeq (protein)

NP_001020127
NP_008849

NP_766357

Location (UCSC)n/aChr 9: 42.16 – 42.18 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Lathosterol oxidase is a Delta7-sterol 5(6)-desaturase enzyme that in humans is encoded by the SC5D gene.[4][5]

This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described.[5]

References[edit]

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032018 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Matsushima M, Inazawa J, Takahashi E, Suzumori K, Nakamura Y (Jan 1997). "Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase". Cytogenet Cell Genet. 74 (4): 252–4. doi:10.1159/000134427. PMID 8976377.
  5. ^ a b "Entrez Gene: SC5DL sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like".

Further reading[edit]